MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Variable levels of gene expression between tissues complicates the use of RNA sequencing of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene- and tissue-specific metric to inform the feasibility of RNA sequencing. This overcomes limitations of using expression...

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Detalles Bibliográficos
Autores principales: Rowlands, Charlie F., Taylor, Algy, Rice, Gillian, Whiffin, Nicola, Hall, Hildegard Nikki, Newman, William G., Black, Graeme C.M., O’Keefe, Raymond T., Hubbard, Simon, Douglas, Andrew G.L., Baralle, Diana, Briggs, Tracy A., Ellingford, Jamie M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874219/
https://www.ncbi.nlm.nih.gov/pubmed/35065709
http://dx.doi.org/10.1016/j.ajhg.2021.12.014

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